Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.
Sebastian Figueroa-BonaparteJaume LlaugerSonia SegoviaIzaskun BelmonteIrene PedrosaElena MontielPaula MontesinosJavier Sánchez-GonzálezAlicia Alonso-JiménezEduard GallardoIsabel Illanull nullJordi Díaz-ManeraPublished in: Scientific reports (2018)
Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal and respiratory muscle weakness. Enzyme replacement therapy (ERT) slows down the progression of muscle symptoms. Reliable biomarkers are needed to follow up ERT-treated and asymptomatic LOPD patients in clinical practice. In this study, 32 LOPD patients (22 symptomatic and 10 asymptomatic) underwent muscle MRI using 3-point Dixon and were evaluated at the time of the MRI with several motor function tests and patient-reported outcome measures, and again after one year. Muscle MRI showed a significant increase of 1.7% in the fat content of the thigh muscles in symptomatic LOPD patients. In contrast, there were no noteworthy differences between muscle function tests in the same period of time. We did not observe any significant changes either in muscle MRI or in muscle function tests in asymptomatic patients over the year. We conclude that 3-point Dixon muscle MRI is a useful tool for detecting changes in muscle structure in symptomatic LOPD patients and could become part of the current follow-up protocol in daily clinics.
Keyphrases
- late onset
- end stage renal disease
- newly diagnosed
- ejection fraction
- skeletal muscle
- magnetic resonance imaging
- chronic kidney disease
- patient reported
- prognostic factors
- randomized controlled trial
- clinical practice
- primary care
- contrast enhanced
- computed tomography
- physical activity
- adipose tissue
- depressive symptoms
- patient reported outcomes